Alagille syndrome associated with xerophthalmia

Abstract

Purpose: To report the occurrence of xerophthalmia and keratomalacia in a patient with Alagille syndrome.

Methods: The patient's record and relevant literature were reviewed.

Results: A 3-year-old boy with Alagille syndrome was examined at our institution due to severe bilateral ocular irritation. A corneal ulcer and keratomalacia were found in the right eye and severe dryness with corneal opacification was found in the left eye. He was treated with topical fortified antibiotics in the right eye, followed by amniotic membrane transplantation. Due to his systemic condition, characterized by severe cholestasis and intestinal malabsorption, a suspicion of vitamin A deficiency was raised and was later confirmed in serum analysis.

Conclusion: This is the first report of xerophthalmia in a patient with Alagille syndrome. Vitamin A deficiency leading to xerophthalmia is common in developing countries; however, its occurrence in the West is rare, leading to a reduced awareness of this disorder amongst clinicians. Unusual eating habits, intestinal malabsorption and liver disease are possible causes for such a deficiency. The purpose of this case report is to raise awareness to the possibility of vitamin A deficiency in children with keratopathy, especially when associated with these disorders.

Keywords: Alagille syndrome; Keratomalacia; Vitamin A deficiency; Xerophthalmia.

Fig. 1

At the age of 9 months, a prominent posterior embryotoxon was visible in the corneal periphery (shown in the right eye, present bilaterally).

Fig. 2

Bilateral manifestations of xerophthalmia. a Right eye – the cornea is opaque and covered by an amniotic membrane. b Left eye – conjunctival irritation and corneal opacification.